Canonical Allele Identifier: CA2580082215
Gene: PTEN HGNC NCBI
MLDHR HGNC NCBI

Linked Data

ClinVar Variation Id: 1764059
ClinVar RCV Id: RCV002449596
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863609del , CM000672.2:g.87863609del GRCh38
NC_000010.10:g.89623366del , CM000672.1:g.89623366del GRCh37
NC_000010.9:g.89613346del NCBI36
NG_007466.2:g.5172del , LRG_311:g.5172del
NG_033079.1:g.4831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-16-845del (PTEN) ENSP00000516674.1:n.-16-845del
ENST00000688308.1:c.-17+496del (PTEN) ENSP00000508752.1:n.-17+496del
ENST00000692337.1:c.51del (MLDHR) ENSP00000509326.1:p.Thr18ArgfsTer?
ENST00000693560.1:c.-341del (PTEN) ENSP00000509861.1:n.-341del
ENST00000371953.7:c.-861del (PTEN) ENSP00000361021.3:n.-861del
ENST00000610634.1:c.-963del (PTEN) ENSP00000477517.1:n.-963del
NM_000314.5:c.-860del (PTEN) NP_000305.3:n.-860del
NM_000314.6:c.-860del (PTEN) NP_000305.3:n.-860del
NM_001304717.2:c.-341del (PTEN) NP_001291646.2:n.-341del
NM_001304718.1:c.-1565del (PTEN) NP_001291647.1:n.-1565del
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